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Page 1
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome.
Winter J, Lehmann T, Suckow V, Kijas Z, Kulozik A, Kalscheuer V, Hamel B, Devriendt K, Opitz J, Lenzner S, Ropers HH, Schweiger S. Winter J, et al. Among authors: kalscheuer v. Hum Genet. 2003 Mar;112(3):249-54. doi: 10.1007/s00439-002-0901-5. Epub 2003 Jan 24. Hum Genet. 2003. PMID: 12545276
The MAS proto-oncogene is not imprinted in humans.
Riesewijk AM, Schepens MT, Mariman EM, Ropers HH, Kalscheuer VM. Riesewijk AM, et al. Among authors: kalscheuer vm. Genomics. 1996 Jul 15;35(2):380-2. doi: 10.1006/geno.1996.0372. Genomics. 1996. PMID: 8661154 Free article.
Evidence against a major role of PEG1/MEST in Silver-Russell syndrome.
Riesewijk AM, Blagitko N, Schinzel AA, Hu L, Schulz U, Hamel BC, Ropers HH, Kalscheuer VM. Riesewijk AM, et al. Among authors: kalscheuer vm. Eur J Hum Genet. 1998 Mar-Apr;6(2):114-20. doi: 10.1038/sj.ejhg.5200164. Eur J Hum Genet. 1998. PMID: 9781054
206 results